Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family

Journal of Medical Genetics

Volumn 33, Issue 12, 1996, Pages 1007-1010

  De Vries, Bert B A ^a   Jansen, Carola Cam ^a   Duits, Annelien A ^a   Verheij, Coleta ^a   Willemsen, Rob ^a   Van Hemel, Jan O ^a   Van Den Ouweland, Ans M W ^a   Niermeijer, Martinus F ^a   Oostra, Ben A ^a   Halley, Dicky J J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Clinical variability; Fragile X syndrome; Methylation; Protein expression

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE REPORT; CPG ISLAND; DNA METHYLATION; FRAGILE X SYNDROME; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MENTAL DEFICIENCY; MENTAL HEALTH; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS;

EID: 16944366733     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.12.1007     Document Type: Article

References (20)

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